Canonical Allele Identifier: CA2582204689

Gene: PRKD2

Linked Data

• dbSNP Id: rs2122754130
• gnomAD v3: 19-46704732-ATC-A
• gnomAD v4: 19-46704732-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704737_46704738del , CM000681.2:g.46704737_46704738del	GRCh38
NC_000019.9:g.47207994_47207995del , CM000681.1:g.47207994_47207995del	GRCh37
NC_000019.8:g.51899834_51899835del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.512-85_512-84del MANE Select	ENSP00000291281.3:n.512-85_512-84del
ENST00000291281.8:c.512-85_512-84del	ENSP00000291281.3:n.512-85_512-84del
ENST00000433867.5:c.512-85_512-84del	ENSP00000393978.1:n.512-85_512-84del
ENST00000595132.5:c.41-85_41-84del	ENSP00000470363.1:n.41-85_41-84del
ENST00000595515.5:c.512-85_512-84del	ENSP00000470804.1:n.512-85_512-84del
ENST00000597641.1:c.247-85_247-84del	ENSP00000469064.1:n.247-85_247-84del
ENST00000598633.1:c.41-85_41-84del	ENSP00000470919.1:n.41-85_41-84del
ENST00000600194.5:c.41-85_41-84del	ENSP00000472744.1:n.41-85_41-84del
ENST00000601605.5:c.41-3622_41-3621del	ENSP00000470442.1:n.41-3622_41-3621del
ENST00000601806.5:c.41-85_41-84del	ENSP00000469106.1:n.41-85_41-84del
NM_001079880.1:c.512-85_512-84del	NP_001073349.1:n.512-85_512-84del
NM_001079881.1:c.512-85_512-84del	NP_001073350.1:n.512-85_512-84del
NM_001079882.1:c.41-85_41-84del	NP_001073351.1:n.41-85_41-84del
NM_016457.4:c.512-85_512-84del	NP_057541.2:n.512-85_512-84del
XM_005258716.2:c.41-85_41-84del	XP_005258773.2:n.41-85_41-84del
NM_001079880.2:c.512-85_512-84del	NP_001073349.1:n.512-85_512-84del
NM_001079881.2:c.512-85_512-84del	NP_001073350.1:n.512-85_512-84del
NM_001079882.2:c.41-85_41-84del	NP_001073351.1:n.41-85_41-84del
NM_016457.5:c.512-85_512-84del MANE Select	NP_057541.2:n.512-85_512-84del